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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
FBLN2
Variant:
p.G135S
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FBLN2
NM_001004019.2:p.G135S
hg38:chr3:13570758 G>A
Frequencies & domains
Associated Papers
Novel mutations in malonyl-CoA-acyl carrier protein transacylase provoke autosomal recessive optic neuropathy.
Li H et al.
Human Molecular Genetics,
2020
31915829 (PubMed
)
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